ClinVar Miner

List of variants in gene MAN1B1 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25976
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962 0.02913
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515 0.01096
NM_016219.5(MAN1B1):c.1255-5C>T rs73569532 0.01076
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_016219.5(MAN1B1):c.1386C>T (p.Ala462=) rs141112920 0.00215
NM_016219.5(MAN1B1):c.1710G>A (p.Glu570=) rs144271949 0.00210
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=) rs145704211 0.00151
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
NM_016219.5(MAN1B1):c.1095C>T (p.Ala365=) rs144304981 0.00083
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=) rs377461918 0.00013

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